Variant report

Variant	rs535780
Chromosome Location	chr6:106548730-106548731
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:106548314..106551554-chr6:106556106..106558201,3	K562	blood:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs12175062	0.81[JPT][hapmap]
rs1934593	0.81[JPT][hapmap]
rs1984224	1.00[CEU][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];0.91[TSI][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4946724	0.81[JPT][hapmap]
rs547057	0.87[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.88[LWK][hapmap];0.95[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6924535	1.00[CEU][hapmap];0.86[JPT][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932155	chr6:106281728-107030467	Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv1025231	chr6:106451012-106634389	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv830755	chr6:106461705-106624202	Weak transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	nsv1025900	chr6:106529777-106898421	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	nsv1018270	chr6:106531658-106908606	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
6	nsv538399	chr6:106531658-106908606	Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
7	esv1832544	chr6:106539914-106642993	Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:106543600-106549600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
2	chr6:106544800-106551200	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr6:106545000-106548800	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
4	chr6:106545000-106549200	Active TSS	Colonic Mucosa	Colon
5	chr6:106545400-106549200	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
6	chr6:106545400-106551000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr6:106545600-106548800	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
8	chr6:106546600-106549000	Active TSS	Adipose Nuclei	Adipose
9	chr6:106546600-106551200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr6:106546600-106559000	Weak transcription	Colon Smooth Muscle	Colon
11	chr6:106546800-106548800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
12	chr6:106546800-106551000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr6:106546800-106551000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr6:106546800-106551200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr6:106546800-106551400	Weak transcription	Dnd41	blood
16	chr6:106546800-106552800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr6:106546800-106560200	Weak transcription	HSMM	muscle
18	chr6:106546800-106567000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr6:106547000-106549000	Strong transcription	HMEC	breast
20	chr6:106547000-106551200	Weak transcription	Primary monocytes fromperipheralblood	blood
21	chr6:106547000-106552000	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
22	chr6:106547200-106548800	Weak transcription	Spleen	Spleen
23	chr6:106547200-106550200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
24	chr6:106547200-106551200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr6:106547200-106551200	Weak transcription	Brain Hippocampus Middle	brain
26	chr6:106547200-106551400	Weak transcription	Primary hematopoietic stem cells	blood
27	chr6:106547200-106551400	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr6:106547200-106562600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr6:106547400-106548800	Enhancers	Primary B cells from peripheral blood	blood
30	chr6:106547400-106548800	Active TSS	Primary T killer naive cells fromperipheralblood	blood
31	chr6:106547400-106548800	Weak transcription	Lung	lung
32	chr6:106547400-106548800	Weak transcription	Rectal Smooth Muscle	rectum
33	chr6:106547400-106548800	Weak transcription	Small Intestine	intestine
34	chr6:106547400-106548800	Weak transcription	A549	lung
35	chr6:106547400-106548800	Weak transcription	Hela-S3	cervix
36	chr6:106547400-106549000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
37	chr6:106547400-106549000	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr6:106547400-106549600	Weak transcription	Stomach Mucosa	stomach
39	chr6:106547400-106551000	Weak transcription	Monocytes-CD14+_RO01746	blood
40	chr6:106547400-106551000	Weak transcription	Osteobl	bone
41	chr6:106547400-106551400	Weak transcription	Gastric	stomach
42	chr6:106547400-106551400	Weak transcription	Pancreas	Pancrea
43	chr6:106547400-106552800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr6:106547400-106552800	Weak transcription	Placenta	Placenta
45	chr6:106547400-106553000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr6:106547400-106557200	Strong transcription	Fetal Intestine Large	intestine
47	chr6:106547400-106558200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr6:106547400-106560200	Weak transcription	NH-A	brain
49	chr6:106547600-106548800	Active TSS	Primary T regulatory cells fromperipheralblood	blood
50	chr6:106547600-106549000	Active TSS	Rectal Mucosa Donor 31	rectum

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